Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.Y424_K425insFs

ALOX12B

251 papers

RefSeq Summary

This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythrode...

Pfam Domains

PLATaa 4–114UCSCPLAT/LH2 domain
Lipoxygenaseaa 237–684UCSCLipoxygenase

Gene Aliases

HGNC Name

arachidonate 12-lipoxygenase, 12R type

HGNC Alias Symbol

12R-LOX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001139.3
p.Y424_K425insFs
c.1272_1273insC
Surrounding Variants
2 papers
NM_001139.3
p.K425fs
c.1273_1274fs
1 paper
NM_001139.3
p.K425insFs
c.1273_1274insG
1 paper
NM_001139.3
p.K425R
c.1274A>G
2 papers
NM_001139.3
p.K425fs
c.1273_1274fs
6 papers
NM_001139.3
p.P422L
c.1265C>T
1 paper
NM_001139.3
p.P422S
c.1264C>T
4 papers
NM_001139.3
p.H421Y
c.1261C>T
1 paper
NM_001139.3
p.C420Y
c.1259G>A
2 papers
NM_001139.3
p.C420G
c.1258T>G
2 papers
NM_001139.3
p.N416_L417del2
c.1246_1250del6
1 paper
NM_001139.3
p.N416K
c.1248C>G
1 paper
NM_001139.3
p.N416K
c.1248C>A
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